Molecular consequences of deletion of the cytoplasmic domain of bullous pemphigoid 180 in a patient with predominant features of epidermolysis bullosa simplex.
D000818:Animals; D001324:Autoantigens / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D019556:COS Cells; D002352:Carrier Proteins; D003593:Cytoplasm; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D017353:Gene Deletion; D022002:Hemidesmosomes / Q000473:pathology; D006801:Humans; D039663:Integrin beta4 / Q000378:metabolism; D015603:Keratinocytes / Q000502:physiology / Q000648:ultrastructure; D016253:Microscopy, Immunoelectron; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D011485:Protein Binding; D011499:Protein Processing, Post-Translational; D017434:Protein Structure, Tertiary; D014162:Transfection; D000097805:Collagen Type XVII
D001324:Autoantigens; D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D039663:Integrin beta4; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D000097805:Collagen Type XVII; C486268:DST protein, human